14q22.3 Microdeletion encompassing OTX2 in a five-generation family with microphthalmia, pituitary abnormalities, and intellectual disability. [electronic resource]
Producer: 20171117Description: 352-3 p. digitalISSN:- 1744-5094
- Child, Preschool
- Chromosome Aberrations
- Chromosomes, Human, Pair 14 -- genetics
- Female
- Humans
- Intellectual Disability -- genetics
- Limb Deformities, Congenital -- genetics
- Microphthalmos -- genetics
- Nervous System Malformations -- genetics
- Oligonucleotide Array Sequence Analysis
- Otx Transcription Factors -- genetics
- Pedigree
- Sequence Deletion
- Urogenital Abnormalities -- genetics
No physical items for this record
Publication Type: Case Reports; Letter
There are no comments on this title.
Log in to your account to post a comment.